Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 461 - 464 of 479 in total
Pyruvate dehydrogenase deficiency (E1)
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 9900 +/- 8200 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 670 +/- 990 uM | Abnormal | Children (1-13 years old) | Both | details |
Pyruvate dehydrogenase phosphatase deficiency (608782 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Acetoacetic acid (HMDB0000060) | 360 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| L-Alanine (HMDB0000161) | 1000 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Lactic acid (HMDB0000190) | 15000 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 1800 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Hydrogen carbonate (HMDB0000595) | 3500 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Pyruvic acid (HMDB0000243) | 400 uM | Abnormal | Infant (0-1 year old) | Male | details |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (604278 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Aldosterone (HMDB0000037) | 0.0013 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Angiotensin II (HMDB0001035) | 0.00169 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Angiotensin I (HMDB0061196) | 0.017 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Hydrogen carbonate (HMDB0000595) | 12700 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
SC4MOL deficiency (616834 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Cholesterol (HMDB0000067) | 2198.351-2405.254 uM | Abnormal | Adolescent (13-18 years old) | Female | details |